Overview

Dr. Nelson participates in a variety of clinical research focusing on the discovery of underlying molecular mechanism of disease and on the validation of new technologies and assays for implementation in the clinical molecular genetics laboratory.

Publications

De novo TBR1 variants cause a neurocognitive phenotype with ID and autistic traits: report of 25 new individuals and review of the literature.
European journal of human genetics : EJHG
Nambot S and Faivre L and Mirzaa G and Thevenon J and Bruel AL and Mosca-Boidron AL and Masurel-Paulet A and Goldenberg A and Le Meur N and Charollais A and Mignot C and Petit F and Thauvin-Robinet C
DOI: 10.1038/s41431-020-0571-6
PubMed: 32005960
01/2020

Alpha-1-antitrypsin molecular testing in Canada: A seven year, multi-centre comparison
Clinical Biochemistry
Mattman, A. and Gilfix, B.M. and Chen, S.X. and DeMarco, M.L. and Kyle, B.D. and Parker, M.L. and Agbor, T.A. and Jung, B. and Selvarajah, S. and Barakauskas, V.E. and Vaags, A.K. and Estey, M.P. and Nelson, T.N. and Speevak, M.D.
DOI: 10.1016/j.clinbiochem.2020.05.001
2020

Performance of a three-tier (IRT-DNA-IRT) cystic fibrosis screening algorithm in British Columbia
International Journal of Neonatal Screening
Sinclair, G. and McMahon, V. and Schellenberg, A. and Nelson, T.N. and Chilvers, M. and Vallance, H.
DOI: 10.3390/ijns6020046
2020

NullCanada: A novel a1-antitrypsin allele with in cis variants Glu366Lys and Ile100Asn
Clinical Biochemistry
Chen, S. and DeMarco, M.L. and Estey, M.P. and Kyle, B. and Parker, M.L. and Agbor, T.A. and Kawada, P. and Speevak, M. and Nelson, T.N. and Mattman, A.
DOI: 10.1016/j.clinbiochem.2020.02.013
2020

The expanding clinical phenotype of germline ABL1-associated congenital heart defects and skeletal malformations syndrome
Human Mutation
Chen, C.-A. and Crutcher, E. and Gill, H. and Nelson, T.N. and Robak, L.A. and Jongmans, M.C.J. and Pfundt, R. and Prasad, C. and Berard, R.A. and Fannemel, M. and Frengen, E. and Misceo, D. and Ramsey, K. and Yang, Y. and Schaaf, C.P. and Wang, X.
DOI: 10.1002/humu.24075
2020

Renpenning syndrome in a female.
American journal of medical genetics. Part A
Cho RY and Peñaherrera MS and Du Souich C and Huang L and Mwenifumbo J and Nelson TN and Elliott AM and Adam S and CAUSES Study and Eydoux P and Yang GX and Chijiwa C and Van Allen MI and Lehman A
DOI: 10.1002/ajmg.a.61451
PubMed: 31840929
12/2019

The cost trajectory of the diagnostic care pathway for children with suspected genetic disorders.
Genetics in medicine : official journal of the American College of Medical Genetics
Dragojlovic N and van Karnebeek CDM and Ghani A and Genereaux D and Kim E and Birch P and CAUSES Study and Elliott AM and Friedman JM and Lynd LD
DOI: 10.1038/s41436-019-0635-6
PubMed: 31462755
08/2019

Diagnostic Yield and Treatment Impact of Targeted Exome Sequencing in Early-Onset Epilepsy.
Frontiers in neurology
Demos M and Guella I and DeGuzman C and McKenzie MB and Buerki SE and Evans DM and Toyota EB and Boelman C and Huh LL and Datta A and Michoulas A and Selby K and Bjornson BH and Horvath G and Farrer MJ
DOI: 10.3389/fneur.2019.00434
PubMed: 31164858
05/2019

CCMG practice guideline: Laboratory guidelines for next-generation sequencing
Journal of Medical Genetics
Hume, S. and Nelson, T.N. and Speevak, M. and McCready, E. and Agatep, R. and Feilotter, H. and Parboosingh, J. and Stavropoulos, D.J. and Taylor, S. and Stockley, T.L.
DOI: 10.1136/jmedgenet-2019-106152
2019

The Responsibility to Recontact Research Participants after Reinterpretation of Genetic and Genomic Research Results
American Journal of Human Genetics
Bombard, Y. and Brothers, K.B. and Fitzgerald-Butt, S. and Garrison, N.A. and Jamal, L. and James, C.A. and Jarvik, G.P. and McCormick, J.B. and Nelson, T.N. and Ormond, K.E. and Rehm, H.L. and Richer, J. and Souzeau, E. and Vassy, J.L. and Wagner, J.K. and Levy, H.P.
DOI: 10.1016/j.ajhg.2019.02.025
2019

Choosing Wisely Canada: The Canadian College of Medical Geneticists' (CCMG) list of five items physicians and patients should question
Journal of Medical Genetics
Goh, E. and Guerin, A. and Lazier, J. and Goobie, S. and Nelson, T.N. and Agatep, R. and Siu, V.M. and Niederhoffer, K.Y. and Richer, J.
DOI: 10.1136/jmedgenet-2017-104924
2018

The Genomic Consultation Service: A clinical service designed to improve patient selection for genome-wide sequencing in British Columbia
Molecular Genetics and Genomic Medicine
Elliott, A.M. and du Souich, C. and Adam, S. and Dragojlovic, N. and van Karnebeek, C. and Nelson, T.N. and Lehman, A. and Lynd, L.D. and Friedman, J.M.
DOI: 10.1002/mgg3.410
2018

Practice guideline: Joint CCMG-SOGC recommendations for the use of chromosomal microarray analysis for prenatal diagnosis and assessment of fetal loss in Canada
Journal of Medical Genetics
Armour, C.M. and Dougan, S.D. and Brock, J.-A. and Chari, R. and Chodirker, B.N. and Debie, I. and Evans, J.A. and Gibson, W.T. and Kolomietz, E. and Nelson, T.N. and Tihy, F. and Thomas, M.A. and Stavropoulos, D.J.
DOI: 10.1136/jmedgenet-2017-105013
2018

Severe hemolytic disease of the fetus and newborn due to allo-anti-D in a patient with a partial DEL phenotype arising from the variant allele described as RHD*148+1T (RHD*01EL.31)
Transfusion
Turley, E. and McGowan, E.C. and Hyland, C.A. and Schoeman, E.M. and Flower, R.L. and Skoll, A. and Delisle, M.-F. and Nelson, T. and Clarke, G. and Au, N.
DOI: 10.1111/trf.14944
2018

The cost and diagnostic yield of exome sequencing for children with suspected genetic disorders: a benchmarking study
Genetics in Medicine
Dragojlovic, N. and Elliott, A.M. and Adam, S. and van Karnebeek, C. and Lehman, A. and Mwenifumbo, J.C. and Nelson, T.N. and du Souich, C. and Friedman, J.M. and Lynd, L.D.
DOI: 10.1038/gim.2017.226
2018

De Novo Mutations in YWHAG Cause Early-Onset Epilepsy.
American journal of human genetics
Guella I and McKenzie MB and Evans DM and Buerki SE and Toyota EB and Van Allen MI and Epilepsy Genomics Study and Suri M and Elmslie F and Farrer MJ
DOI: 10.1016/j.ajhg.2017.07.004
PubMed: 28777935
08/2017

Data sharing as a national quality improvement program: reporting on BRCA1 and BRCA2 variant-interpretation comparisons through the Canadian Open Genetics Repository (COGR).
Genetics in medicine : official journal of the American College of Medical Genetics
Lebo MS and Zakoor KR and Chun K and Speevak MD and Waye JS and McCready E and Parboosingh JS and Lamont RE and Feilotter H and Bosdet I and Tucker T and Young S and Karsan A and Canadian Open Genetics Repository Working Group
DOI: 10.1038/gim.2017.80
PubMed: 28726806
07/2017

Loss-of-Function and Gain-of-Function Mutations in KCNQ5 Cause Intellectual Disability or Epileptic Encephalopathy.
American journal of human genetics
Lehman A and Thouta S and Mancini GMS and Naidu S and van Slegtenhorst M and McWalter K and Person R and Mwenifumbo J and Salvarinova R and CAUSES Study and EPGEN Study and Guella I and Claydon T
DOI: 10.1016/j.ajhg.2017.05.016
PubMed: 28669405
06/2017

An Infant With Epilepsy and Recurrent Hemiplegia due to Compound Heterozygous Variants in ATP1A2
Pediatric Neurology
Wilbur, C. and Buerki, S.E. and Guella, I. and Toyota, E.B. and Evans, D.M. and McKenzie, M.B. and Datta, A. and Michoulas, A. and Adam, S. and Van Allen, M.I. and Nelson, T.N. and Farrer, M.J. and Connolly, M.B. and Demos, M.
DOI: 10.1016/j.pediatrneurol.2017.06.003
2017

De Novo Mutations in EBF3 Cause a Neurodevelopmental Syndrome.
American journal of human genetics
Sleven H and Welsh SJ and Yu J and Churchill MEA and Wright CF and Henderson A and Horvath R and Rankin J and Vogt J and Magee A and McConnell V and Green A and King MD and Cox H and Németh AH
DOI: 10.1016/j.ajhg.2016.11.020
PubMed: 28017370
12/2016

Joint SOGC-CCMG Opinion for Reproductive Genetic Carrier Screening: An Update for All Canadian Providers of Maternity and Reproductive Healthcare in the Era of Direct-to-Consumer Testing.
Journal of obstetrics and gynaecology Canada : JOGC = Journal d'obstetrique et gynecologie du Canada : JOGC
Wilson RD and De Bie I and Armour CM and Brown RN and Campagnolo C and Carroll JC and Okun N and Nelson T and Zwingerman R and Audibert F and Brock JA and Brown RN and Campagnolo C and Van Karnebeek C
DOI: 10.1016/j.jogc.2016.06.008
PubMed: 27638987
08/2016

Incidental finding of paternal UPD15 in a child with a deletion of 11q21-q22.3, presenting with developmental delay, coloboma and characteristic dysmorphic features
Clinical Dysmorphology
Tucker, T. and Steinraths, M. and Oh, T. and Nelson, T.N. and Van Allen, M.I. and Brown, L. and Schlade-Bartusiak, K.
DOI: 10.1097/MCD.0000000000000108
2016

De novo FGF12 mutation in 2 patients with neonatal-onset epilepsy
Neurology: Genetics
Guella, I. and Huh, L. and McKenzie, M.B. and Toyota, E.B. and Martina Bebin, E. and Thompson, M.L. and Cooper, G.M. and Evans, D.M. and Buerki, S.E. and Adam, S. and Van Allen, M.I. and Nelson, T.N. and Connolly, M.B. and Farrer, M.J. and Demos, M.
DOI: 10.1212/NXG.0000000000000120
2016

A three-tier algorithm for guanidinoacetate methyltransferase (GAMT) deficiency newborn screening
Molecular Genetics and Metabolism
Sinclair, G.B. and van Karnebeek, C.D.M. and Ester, M. and Boyd, F. and Nelson, T. and Stockler-Ipsiroglu, S. and Vallance, H.
DOI: 10.1016/j.ymgme.2016.05.002
2016

Joint SOGC-CCMG opinion for reproductive genetic carrier screening: An update for all Canadian providers of maternity and reproductive healthcare in the era of direct-to-consumer testing,Opinion commune de la SOGC et du CCGM sur le dépistage génétique en contexte de procréation : Mise à jour à l'intention de l'ensemble des prestataires canadiens de soins de santé maternelle et de services en procr
Journal of Obstetrics and Gynaecology Canada
Wilson, R.D. and De Bie, I. and Armour, C.M. and Brown, R.N. and Campagnolo, C. and Carroll, J.C. and Okun, N. and Nelson, T. and Zwingerman, R.
DOI: 10.1016/j.jogc.2016.07.008
2016

The clinical application of genome-wide sequencing for monogenic diseases in Canada: Position Statement of the Canadian College of Medical Geneticists.
Journal of medical genetics
Boycott K and Hartley T and Adam S and Bernier F and Chong K and Fernandez BA and Friedman JM and Geraghty MT and Hume S and Knoppers BM and Laberge AM and Majewski J and Canadian College of Medical Geneticists
DOI: 10.1136/jmedgenet-2015-103144
PubMed: 25951830
05/2015

Canadian Open Genetics Repository (COGR): a unified clinical genomics database as a community resource for standardising and sharing genetic interpretations.
Journal of medical genetics
Lerner-Ellis J and Wang M and White S and Lebo MS and Canadian Open Genetics Repository Group
DOI: 10.1136/jmedgenet-2014-102933
PubMed: 25904639
04/2015

CCMG statement on direct-to-consumer genetic testing.
Clinical genetics
CCMG Ethics and Public Policy Committee and Nelson, T.N. and Armstrong, L. and Richer, J. and Evans, J. and Lauzon, J. and McGillivray, B. and Bruyere, H. and Dougan, S.
2012

Profound neonatal hypoglycemia and lactic acidosis caused by pyridoxine-dependent epilepsy
Pediatrics
Mercimek-Mahmutoglu, S. and Horvath, G.A. and Coulter-Mackie, M. and Nelson, T. and Waters, P.J. and Sargent, M. and Struys, E. and Jakobs, C. and Stockler-Ipsiroglu, S. and Connolly, M.B.
DOI: 10.1542/peds.2011-0123
2012

A co-occurrence of osteogenesis imperfecta type VI and cystinosis
American Journal of Medical Genetics, Part A
Tucker, T. and Nelson, T. and Sirrs, S. and Roughley, P. and Glorieux, F.H. and Moffatt, P. and Schlade-Bartusiak, K. and Brown, L. and Rauch, F.
DOI: 10.1002/ajmg.a.35319
2012

Uniparental disomy: Can SNP array data be used for diagnosis?
Genetics in Medicine
Tucker, T. and Schlade-Bartusiak, K. and Eydoux, P. and Nelson, T.N. and Brown, L.
DOI: 10.1038/gim.2012.35
2012

CCMG statement on gene patents
Clinical Genetics
Richer, J. and Nelson, T.N. and Evans, J. and Armstrong, L. and Lauzon, J. and McGillivray, B.
DOI: 10.1111/cge.12009
2012

Use of Array Genomic Hybridization Technology in Prenatal Diagnosis in Canada
Journal of Obstetrics and Gynaecology Canada
DOI: 10.1016/s1701-2163(16)35112-x
12/2011

Use of a DNA Method, QF-PCR, in the Prenatal Diagnosis of Fetal Aneuploidies
Journal of Obstetrics and Gynaecology Canada
DOI: 10.1016/s1701-2163(16)35022-8
09/2011

Dépistage prénatal de l’aneuploïdie fœtale en ce qui concerne les grossesses monofœtales
Journal of Obstetrics and Gynaecology Canada
DOI: 10.1016/s1701-2163(16)34962-3
07/2011

Dépistage et diagnostic prénatals de l’aneuploïdie en ce qui concerne les grossesses gémellaires
Journal of Obstetrics and Gynaecology Canada
DOI: 10.1016/s1701-2163(16)34964-7
07/2011

Hypomorphic temperature-sensitive alleles of NSDHL cause CK syndrome.
American journal of human genetics
McLarren KW and Severson TM and du Souich C and Stockton DW and Kratz LE and Cunningham D and Hendson G and Morin RD and Wu D and Paul JE and An J and Nelson TN and Chou A and DeBarber AE and Boerkoel CF
DOI: 10.1016/j.ajhg.2010.11.004
PubMed: 21129721
12/2010

A novel KCNA1 mutation associated with global delay and persistent cerebellar dysfunction
Movement Disorders
Demos, M.K. and Macri, V. and Farrell, K. and Nelson, T.N. and Chapman, K. and Accili, E. and Armstrong, L.
DOI: 10.1002/mds.22467
2009

Multiple granular cell tumors are an associated feature of LEOPARD syndrome caused by mutation in PTPN11
Clinical Genetics
Schrader, K.A. and Nelson, T.N. and De Luca, A. and Huntsman, D.G. and Mcgillivray, B.C.
DOI: 10.1111/j.1399-0004.2008.01100.x
2009

Steroid sulfatase deficiency and contiguous gene deletion syndrome amongst pregnant patients with low serum unconjugated estriols
Prenatal Diagnosis
Langlois, S. and Armstrong, L. and Gall, K. and Hulait, G. and Livingston, J. and Nelson, T. and Power, P. and Pugash, D. and Siciliano, D. and Steinraths, M. and Mattman, A.
DOI: 10.1002/pd.2326
2009

Characterization of a new X-linked mental retardation syndrome with microcephaly, cortical malformation, and thin habitus
American Journal of Medical Genetics, Part A
Du Souich, C. and Chou, A. and Yin, J. and Oh, T. and Nelson, T.N. and Hurlburt, J. and Arbour, L. and Friedlander, R. and McGillivray, B.C. and Tyshchenko, N. and Rump, A. and Poskitt, K.J. and Demos, M.K. and Van Allen, M.I. and Boerkoel, C.F.
DOI: 10.1002/ajmg.a.33071
2009

Dépistage du X fragile en obstétrique-gynécologie au Canada
Journal of Obstetrics and Gynaecology Canada
DOI: 10.1016/s1701-2163(16)32950-4
09/2008

Carrier Screening for Thalassemia and Hemoglobinopathies in Canada
Journal of Obstetrics and Gynaecology Canada
Langlois, S. and Ford, J.C. and Chitayat, D. and D{\'e}silets, V.A. and Farrell, S.A. and Geraghty, M. and Nelson, T. and Nikkel, S.M. and Shugar, A. and Skidmore, D. and Allen, V.M. and Audibert, F. and Blight, C. and Gagnon, A. and Johnson, J.-A. and Douglas Wilson, R. and Wyatt, P.
DOI: 10.1016/S1701-2163(16)32975-9
2008

Carrier screening for thalassemia and hemoglobinopathies in Canada,Dépistage des porteurs de thalassémie et d'hémoglobinopathies au Canada
Journal of Obstetrics and Gynaecology Canada
Langlois, S. and Ford, J.C. and Chitayat, D. and D{\'e}silets, V.A. and Farrell, S.A. and Geraghty, M. and Nelson, T. and Nikkel, S.M. and Skidmore, D. and Shugar, A. and Wilson, R.D. and Johnson, J.-A. and Audibert, F. and Allen, V.M. and Gagnon, A. and Wyatt, P.R. and Blight, C.
DOI: 10.1016/S1701-2163(16)32976-0
2008

Fragile X Testing in Obstetrics and Gynaecology in Canada
Journal of Obstetrics and Gynaecology Canada
Chitayat, D. and Wyatt, P.R. and Wilson, R.D. and Johnson, J.-A. and Audibert, F. and Allen, V. and Gagnon, A. and Langlois, S. and Blight, C. and Brock, J.-A. and D{\'e}silets, V. and D{\'e}silets, V.A. and Farrell, S.A. and Geraghty, M. and Nelson, T. and Nikkel, S.M. and Skidmore, D. and Shugar, A.
DOI: 10.1016/S1701-2163(16)32949-8
2008

Renal-hepatic-pancreatic dysplasia: An autosomal recessive condition that is not linked to the PKHD1 gene on chromosome 6p21.1-p12 [7]
American Journal of Medical Genetics, Part A
Schrader, K.A. and Nelson, T.N. and McFadden, D.E. and Pantzar, T. and Langlois, S.
DOI: 10.1002/ajmg.a.31818
2007

Mid-Trimester Amniocentesis Fetal Loss Rate
Journal of Obstetrics and Gynaecology Canada
Wilson, R.D. and Langlois, S. and Johnson, J.-A. and Desilets, V. and Audibert, F. and Gagnon, A. and Wyatt, P. and Allen, V. and Blight, C. and Chitayat, D. and Farrell, S.A. and Nelson, T. and Nikkel, S.M. and Skidmore, D.
DOI: 10.1016/S1701-2163(16)32501-4
2007

Mid-trimester amniocentesis fetal loss rate,Taux de perte foetale associée à l'amniocentèse menée au cours du deuxième trimestre
Journal of Obstetrics and Gynaecology Canada
Wilson, R.D. and Langlois, S. and Johnson, J.-A. and D{\'e}silets, V. and Audibert, F. and Gagnon, A. and Wyatt, P. and Allen, V. and Blight, C. and Chitayat, D. and Farrell, S.A. and Nelson, T. and Nikkel, S.M. and Skidmore, D.
DOI: 10.1016/S1701-2163(16)32502-6
2007

V37I connexin 26 allele in patients with sensorineural hearing loss: Evidence of its pathogenicity
American Journal of Medical Genetics, Part A
Huculak, C. and Bruyere, H. and Nelson, T.N. and Kozak, F.K. and Laaglois, S.
DOI: 10.1002/ajmg.a.31486
2006

Severe FVII deficiency caused by a new point mutation combined with a previously undetected gene deletion
British Journal of Haematology
Hewitt, J. and Ballard, J.N.M. and Nelson, T.N. and Smith, V.C. and Griffiths, T.A.M. and Pritchard, S. and Wu, J.K. and Wadsworth, L.D. and Casey, B. and MacGillivray, R.T.A.
DOI: 10.1111/j.1365-2141.2004.05296.x
2005

Confirmation of paternity suggests a new mutation in the factor VII gene: 'Pater certus quouque est' - Response to Girolami et al. [2]
British Journal of Haematology
Hewitt, J. and Ballard, J.N.M. and Nelson, T.N. and Smith, V.C. and Griffiths, T.A.M. and Pritchard, S. and Wu, J.K. and Wadsworth, L.D. and Casey, B. and MacGillivray, R.T.A.
DOI: 10.1111/j.1365-2141.2005.05624.x
2005

Stage-specific expression in Leishmania conferred by 3' untranslated regions of L. major leishmanolysin genes (GP63)
Molecular and Biochemical Parasitology
Kelly, B.L. and Nelson, T.N. and McMaster, W.Robert
DOI: 10.1016/S0166-6851(01)00307-3
2001